Ebook: The Molecular Mechanisms of Axenfeld-Rieger Syndrome
Author: Brad A. Amendt Ph.D. (auth.)
- Tags: Human Genetics, Developmental Biology, Molecular Medicine, Cell Biology, Medicine/Public Health general
- Series: Medical Intelligence Unit
- Year: 2005
- Publisher: Springer US
- Edition: 1
- Language: English
- pdf
The Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS). The book provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects. This book brings together the complete analysis of a human genetic defect using humans, mouse and chick epigenetic and genetic studies, combined with cell culture and in vitro analyses. It is a comprehensive study of a unique set of genes and their mutant activities. A molecular basis for the genetic and phenotypic anomalies observed in ARS patients is provided, with especially detailed descriptions of eye, tooth, and heart development.
The Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS). The book provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects. This book brings together the complete analysis of a human genetic defect using humans, mouse and chick epigenetic and genetic studies, combined with cell culture and in vitro analyses. It is a comprehensive study of a unique set of genes and their mutant activities. A molecular basis for the genetic and phenotypic anomalies observed in ARS patients is provided, with especially detailed descriptions of eye, tooth, and heart development.
Content:
Front Matter....Pages i-x
Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2 ....Pages 1-9
Winged Helix/Forkhead Transcription Factors and Rieger Syndrome....Pages 10-25
Rieger Syndrome and PAX6 Deletion....Pages 26-31
The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome....Pages 32-53
Role of PITX2 in the Pituitary Gland....Pages 54-64
Expression and Function of Pitx2 in Chick Heart Looping....Pages 65-73
The Multiple Roles of Pitx2 in Heart Development....Pages 74-80
The Role of PITX2 in Tooth Development....Pages 81-92
PITX Genes and Ocular Development....Pages 93-100
An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders....Pages 101-103
Back Matter....Pages 105-106
The Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS). The book provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects. This book brings together the complete analysis of a human genetic defect using humans, mouse and chick epigenetic and genetic studies, combined with cell culture and in vitro analyses. It is a comprehensive study of a unique set of genes and their mutant activities. A molecular basis for the genetic and phenotypic anomalies observed in ARS patients is provided, with especially detailed descriptions of eye, tooth, and heart development.
Content:
Front Matter....Pages i-x
Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2 ....Pages 1-9
Winged Helix/Forkhead Transcription Factors and Rieger Syndrome....Pages 10-25
Rieger Syndrome and PAX6 Deletion....Pages 26-31
The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome....Pages 32-53
Role of PITX2 in the Pituitary Gland....Pages 54-64
Expression and Function of Pitx2 in Chick Heart Looping....Pages 65-73
The Multiple Roles of Pitx2 in Heart Development....Pages 74-80
The Role of PITX2 in Tooth Development....Pages 81-92
PITX Genes and Ocular Development....Pages 93-100
An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders....Pages 101-103
Back Matter....Pages 105-106
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